26276[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057831, LOC130057832 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	ABHD2, ACAN +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC121530602, LOC121530603 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC129390732, LOC129390733 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC126862240, LOC126862241 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 884570	NM_018668.4(VPS33B):c.*346A>T	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 317416	NM_018668.5(VPS33B):c.*262T>G	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 884571	NM_018668.5(VPS33B):c.*261T>A	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 317417	NM_018668.5(VPS33B):c.*155A>G	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 317418	NM_018668.5(VPS33B):c.*125C>T	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 885502	NM_018668.5(VPS33B):c.*113G>A	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 885503	NM_018668.5(VPS33B):c.*10C>T	VPS33B	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 593697	NM_018668.5(VPS33B):c.1851C>T (p.Ala617=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1923363	NM_018668.5(VPS33B):c.1840_1841delinsCT (p.Glu614Leu)	VPS33B (E614L +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2632088	NM_018668.5(VPS33B):c.1816G>A (p.Ala606Thr)	VPS33B (A515T +2 more)	Single nucleotide variant (missense variant)	VPS33B-related disorder	GUncertain significance
Select item 781722	NM_018668.5(VPS33B):c.1815C>T (p.Ser605=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2559048	NM_018668.5(VPS33B):c.1814G>A (p.Ser605Asn)	VPS33B (S578N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738177	NM_018668.5(VPS33B):c.1806C>A (p.Val602=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876775	NM_018668.5(VPS33B):c.1797G>A (p.Thr599=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810479	NM_018668.5(VPS33B):c.1796C>T (p.Thr599Met)	VPS33B (T508M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2983364	NM_018668.5(VPS33B):c.1782G>A (p.Arg594=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028605	NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)	VPS33B (R567G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 722711	NM_018668.5(VPS33B):c.1775-7T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 885504	NM_018668.5(VPS33B):c.1775-14A>G	VPS33B	Single nucleotide variant (intron variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more	GConflicting classifications of pathogenicity
Select item 1288168	NM_018668.5(VPS33B):c.1775-53G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706786	NM_018668.5(VPS33B):c.1775-130dup	VPS33B	Duplication (intron variant)	not provided	GLikely benign
Select item 1194057	NM_018668.5(VPS33B):c.1775-135del	VPS33B	Deletion (intron variant)	not provided	GLikely benign
Select item 1245281	NM_018668.5(VPS33B):c.1775-198del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1226832	NM_018668.5(VPS33B):c.1775-232T>C	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278236	NM_018668.5(VPS33B):c.1775-276dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1289946	NM_018668.5(VPS33B):c.1775-265del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1237420	NM_018668.5(VPS33B):c.1774+168C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247061	NM_018668.5(VPS33B):c.1774+112G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228711	NM_018668.5(VPS33B):c.1774+106G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790649	NM_018668.5(VPS33B):c.1774+9G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2599548	NM_018668.5(VPS33B):c.1754G>A (p.Arg585Gln)	VPS33B (R585Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288093	NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)	VPS33B	Single nucleotide variant (synonymous variant)	VPS33B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2835539	NM_018668.5(VPS33B):c.1743C>T (p.Ile581=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694284	NM_018668.5(VPS33B):c.1726T>C (p.Cys576Arg)	VPS33B (C576R +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 1 +1 more	GPathogenic
Select item 2779748	NM_018668.5(VPS33B):c.1725T>G (p.Gly575=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800430	NM_018668.5(VPS33B):c.1722T>C (p.Gly574=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793678	NM_018668.5(VPS33B):c.1722T>G (p.Gly574=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885505	NM_018668.5(VPS33B):c.1719G>C (p.Leu573Phe)	VPS33B (L482F +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 286121	NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val)	VPS33B (F572V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195694	NM_018668.5(VPS33B):c.1701C>T (p.Leu567=)	VPS33B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3188904	NM_018668.5(VPS33B):c.1696C>T (p.Arg566Cys)	VPS33B (R475C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 499620	NM_018668.5(VPS33B):c.1685G>A (p.Ser562Asn)	VPS33B (S562N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499523	NM_018668.5(VPS33B):c.1685G>T (p.Ser562Ile)	VPS33B (S562I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929868	NM_018668.5(VPS33B):c.1672G>C (p.Asp558His)	VPS33B (D531H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261044	NM_018668.5(VPS33B):c.1671A>G (p.Glu557=)	VPS33B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2767301	NM_018668.5(VPS33B):c.1665T>A (p.Thr555=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693160	NM_018668.5(VPS33B):c.1658-1G>T	VPS33B	Single nucleotide variant (splice acceptor variant)	not provided	Gnot provided
Select item 289889	NM_018668.5(VPS33B):c.1658-7C>T	VPS33B	Single nucleotide variant (intron variant)	VPS33B-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1919568	NM_018668.5(VPS33B):c.1658-15G>T	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 261043	NM_018668.5(VPS33B):c.1658-36G>A	VPS33B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1908149	NM_018668.5(VPS33B):c.1657+4T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 261042	NM_018668.5(VPS33B):c.1656A>T (p.Thr552=)	VPS33B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2182822	NM_018668.5(VPS33B):c.1654A>C (p.Thr552Pro)	VPS33B (T552P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011255	NM_018668.5(VPS33B):c.1653C>T (p.Phe551=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879529	NM_018668.5(VPS33B):c.1650A>G (p.Ala550=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029060	NM_018668.5(VPS33B):c.1623_1641del (p.Arg542fs)	VPS33B (R451fs +2 more)	Deletion (frameshift variant)	VPS33B-related disorder	GLikely pathogenic
Select item 3188903	NM_018668.5(VPS33B):c.1635C>G (p.Asn545Lys)	VPS33B (N545K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683330	NM_018668.5(VPS33B):c.1625G>A (p.Arg542Gln)	VPS33B (R451Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001501	NM_018668.5(VPS33B):c.1624C>A (p.Arg542=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286653	NM_018668.5(VPS33B):c.1616del (p.Glu539fs)	VPS33B (E448fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2286702	NM_018668.5(VPS33B):c.1604A>G (p.Gln535Arg)	VPS33B (Q444R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526210	NM_018668.5(VPS33B):c.1602G>A (p.Trp534Ter)	VPS33B (W443* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 1	GLikely pathogenic
Select item 2142888	NM_018668.5(VPS33B):c.1595G>A (p.Arg532Gln)	VPS33B (R505Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201	NM_018668.5(VPS33B):c.1594C>T (p.Arg532Ter)	VPS33B (R532* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 317419	NM_018668.5(VPS33B):c.1591C>T (p.Arg531Trp)	VPS33B (R531W +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GUncertain significance
Select item 597934	NM_018668.5(VPS33B):c.1588G>C (p.Glu530Gln)	VPS33B (E530Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207702	NM_018668.5(VPS33B):c.1582-74C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276771	NM_018668.5(VPS33B):c.1582-78_1582-77del	VPS33B	Deletion (intron variant)	not provided	GBenign
Select item 1273297	NM_018668.5(VPS33B):c.1582-202G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294517	NM_018668.5(VPS33B):c.1581+200G>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205701	NM_018668.5(VPS33B):c.1581+183C>A	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188439	NM_018668.5(VPS33B):c.1581+166C>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283761	NM_018668.5(VPS33B):c.1581+77dup	VPS33B	Duplication (intron variant)	not provided	GBenign
Select item 1207544	NM_018668.5(VPS33B):c.1581+82T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218557	NM_018668.5(VPS33B):c.1581+79T>G	VPS33B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3049052	NM_018668.5(VPS33B):c.1575T>A (p.Ile525=)	VPS33B	Single nucleotide variant (synonymous variant)	VPS33B-related disorder	GLikely benign
Select item 2420143	NM_018668.5(VPS33B):c.1568G>A (p.Arg523Gln)	VPS33B (R432Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597814	NM_018668.5(VPS33B):c.1567C>G (p.Arg523Gly)	VPS33B (R523G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2087808	NM_018668.5(VPS33B):c.1559T>C (p.Leu520Pro)	VPS33B (L520P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788056	NM_018668.5(VPS33B):c.1557C>G (p.Pro519=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941042	NM_018668.5(VPS33B):c.1540G>C (p.Gly514Arg)	VPS33B (G487R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261041	NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)	VPS33B (G514S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 595275	NM_018668.5(VPS33B):c.1534G>A (p.Val512Ile)	VPS33B (V512I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983534	NM_018668.5(VPS33B):c.1533C>T (p.Tyr511=)	VPS33B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690441	NM_018668.5(VPS33B):c.1529C>T (p.Ala510Val)	VPS33B (A419V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905611	NM_018668.5(VPS33B):c.1520G>A (p.Arg507Gln)	VPS33B (R416Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686295	NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)	VPS33B (R416* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 1	GPathogenic
Select item 1526115	NM_018668.5(VPS33B):c.1509dup (p.Lys504fs)	VPS33B (K413fs +2 more)	Duplication (frameshift variant)	Arthrogryposis, renal dysfunction, and cholestasis 1	GPathogenic
Select item 2479377	NM_018668.5(VPS33B):c.1504G>A (p.Asp502Asn)	VPS33B (D475N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886528	NM_018668.5(VPS33B):c.1501T>C (p.Tyr501His)	VPS33B (Y410H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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